Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that Cause Type Ia Glycogen Storage Disease

por Chou, Janice Y., Mansfield, Brian C.
Publicado em 2008

Gene Therapy for Type I Glycogen Storage Diseases

por Chou, Janice Y., Mansfield, Brian C.
Publicado em 2007

The SLC37 Family of Sugar-Phosphate/Phosphate Exchangers

por Chou, Janice Y., Mansfield, Brian C.
Publicado em 2014

Neutropenia in type Ib glycogen storage disease

por Chou, Janice Y., Jun, Hyun Sik, Mansfield, Brian C.
Publicado em 2010

The SLC37 family of phosphate-linked sugar phosphate antiporters

por Chou, Janice Y., Jun, Hyun Sik, Mansfield, Brian C.
Publicado em 2013

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

por Chou, Janice Y., Jun, Hyun Sik, Mansfield, Brian C.
Publicado em 2010

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation

por Mansfield, Brian C., Yerxa, Benjamin R., Branham, Kari H.
Publicado no Am J Med Genet C Semin Med Genet (2020)

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency

por Lin, Su Ru, Pan, Chi-Jiunn, Mansfield, Brian C., Chou, Janice Yang
Publicado no Mol Genet Metab (2014)

Hepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia

por Cho, Jun-Ho, Kim, Goo-Young, Mansfield, Brian C., Chou, Janice Y.
Publicado no Biochem Biophys Res Commun (2018)

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia

por Cho, Jun-Ho, Kim, Goo-Young, Mansfield, Brian C., Chou, Janice Y.
Publicado no J Inherit Metab Dis (2018)

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia

por Zhang, Lisa, Cho, Jun-Ho, Arnaoutova, Irina, Mansfield, Brian C., Chou, Janice Y.
Publicado no J Inherit Metab Dis (2019)

Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing

por Arnaoutova, Irina, Zhang, Lisa, Chen, Hung-Dar, Mansfield, Brian C., Chou, Janice Y.
Publicado no Mol Ther (2021)

The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia

por Gautam, Sudeep, Zhang, Lisa, Arnaoutova, Irina, Lee, Cheol, Mansfield, Brian C, Chou, Janice Y
Publicado no Hum Mol Genet (2020)

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

por Kim, So Youn, Jun, Hyun Sik, Mead, Paul A., Mansfield, Brian C., Chou, Janice Y.
Publicado em 2008

Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia

por Kim, So Youn, Weinstein, David A., Starost, Matthew F., Mansfield, Brian C., Chou, Janice Y.
Publicado em 2007

Oxidative stress mediates nephropathy in type Ia glycogen storage disease

por Yiu, Wai Han, Mead, Paul A., Jun, Hyun Sik, Mansfield, Brian C., Chou, Janice Y.
Publicado em 2010

G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis

por Jun, Hyun Sik, Lee, Young Mok, Song, Ki Duk, Mansfield, Brian C., Chou, Janice Y.
Publicado em 2011

Glucose-6-phosphatase-β, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality

por Jun, Hyun Sik, Cheung, Yuk Yin, Lee, Young Mok, Mansfield, Brian C., Chou, Janice Y.
Publicado em 2012

The Upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia

por Lee, Young Mok, Pan, Chi-Jiunn, Koeberl, Dwight D., Mansfield, Brian C., Chou, Janice Y.
Publicado em 2013

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib

por Jun, Hyun Sik, Weinstein, David A., Lee, Young Mok, Mansfield, Brian C., Chou, Janice Y.
Publicado em 2014